cystic fibrosis

Question 1

what is cystic fibrosis?

Answer 1

a genetic disease
inherited defect in cell chloride channels
-produces excess sticky mucous
-any secretions affected
-lung and pancreas mainly affected

Question 2

what gene is affected?

Answer 2

CFTR gene
chromosome 7
F608del mutation common defect
recessive gene

Question 3

how is cystic fibrosis diagnosed?

Answer 3

prenatal screening
-when suspected
perinatal testing
-blood spot test routine
sweat test
-when suspected
-measures salt content of sweat >normal
CFTR gene testing

Question 4

what are the main symptoms in children?

Answer 4

cough
repeated chest infections
prolonged diarrhoea
poor weight gain

Question 5

what are possible consequences?

Answer 5

liver dysfunction
prone to osteoporosis
diabetes symptoms
-prolonged pancreas disease
reduced fertility
-mainly male

Question 6

what are the tx options?

Answer 6

physiotherapy
medication
exercise
transplant

Question 7

describe physiotherapy?

Answer 7

used to help remove mucous secretions from the lungs
performed at home by parents
10-60 mins daily needed

Question 8

describe medication

Answer 8

lungs
-bronchodilators
-antibiotics - chest infection
-steroids- reduce airway inflammation
digestive system
-pancreatic enzyme replacement
-nutritional supplements
CFTR modulators
stem cell treatments

Question 9

how does stem cell therapy work?

Answer 9

replace bad gene with new copy
if given to stable (adult cells) therapy needs repeated every time cells replaces
if given to stem cells adult cells will be made correctly=cure

Question 10

what are CFTR modulators?

Answer 10

ivacaftor, tezacaftor, elexacaftor

triple combo CFTR modulating therapy that contains 2 correctors and a potentiator of the CFTR channel

Question 11

why is exercise a tx?

Answer 11

necessary to keep lung function optimal

necessary to build physical bulk & strength

Question 12

describe transplant

Answer 12

not a cure
end stage lung disease
-also affects heart
survival up to 20 years